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Article

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Brain : a journal of neurology - 1 Mar 2008

Beck Jonathan, Rohrer Jonathan D, Campbell Tracy, Isaacs Adrian, Morrison Karen E, Goodall Emily F, Warrington Elizabeth K, Stevens John, Revesz Tamas, Holton Janice, Al-Sarraj Safa, King Andrew, Scahill Rachael, Warren Jason D, Fox Nick C, Rossor Martin N, Collinge John, Mead Simon

Abstract excerpt

Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing clinical and anatomical features of this subgroup remain unclear. In a large UK cohort we found five different frameshift...

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Identifiers

PMID: 18234697
DOI: 10.1093/brain/awm320
PMCID: PMC2577762

Genes

GRN
MAPT
APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18234697-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.PMID 18234697Read ↗

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